Molecular features and structure of the glucose-6 phosphate dehydrogenase emzyme in Anamur region

ABSTRACT Molecular Features and Sturucture of the Glucose-6-phosphate Dehydrogenase Enzyme in Anamur Region Glucose-6-phosphate dehydrogenase enzyme is the fist and rate limiting enzyme of pentose phosphate pathway. Deficiency of G6PD is the most common inherited enzyme defect which affects more than 400 million people worldwide. There are about 140 variants of G6PD which is genetically described. The incidence of G6PD deficiency is reported as 8,2% according to population surveys investigated in Çukurova region. The aim of this study is to get a genetic map of G6PD enzyme in Anamur Region in order to study kinetic and molecular properties of G6PD enzyme. Enzyme activity of G6PD was determined by modifying Beutler methods and variants were analysed by RFLP methods and kinetic properties of G6PD were determined according criteria used in WHO. We studied on kinetic properties of five families whose G6PD activities were zero or high and kinetic properties in all cases were different from Gd B and Gd Mediterranean. In addition, there was no relationship among membrane proteines,MDA levels and kinetic properties. Five cases the enzyme activity of which is between 5,1-7,1 U/gHb contains G6PD Mediterranean mutation. Besides, in one female case, enzyme activitiy was determined 0,0 U/gHb and she was found to be G6PD Mediterranean homozigous. Key words: Enzyme deficiency, gIucose-6-phosphate dehydrogenase, G6PD Mediterranean variant, molecular analysis xv